Clinical and Genetic Risk Factors of Long-Term Outcomes after Encephaloduroarteriosynangiosis in Moyamoya Disease in China

• DOI: 10.1016/j.jstrokecerebrovasdis.2021.105847
• Publication Date: 2021-05-13T17:23:51Z
• Authors: Xiaotong Wang; Zhengshan Zhang; Yue Wang; Zhengxing Zou; Na Ta; Fangbin Hao; Mengke Shang; Desheng Li; Fanxin Zeng; Cong Han; Fangfang Nie; Xiangyang Bao; Yuetian Yang; Hui Wang; Man Liang; Rimiao Yang; Lanxin Ou; Lu Wen; Zhibin Yang; Wanyang Liu; Lian Duan
• Keywords: Adenosine Triphosphatases; Adult; Male; China; Polymorphism, Genetic; Time Factors; Adolescent; Cerebral Revascularization; Ubiquitin-Protein Ligases; Risk Assessment; 3. Good health; Young Adult; 03 medical and health sciences; Postoperative Complications; Treatment Outcome; 0302 clinical medicine; Risk Factors; Humans; Female; Genetic Predisposition to Disease; Moyamoya Disease; Genetic Association Studies; Retrospective Studies

This retrospective study was conducted to analyze the associations between ring finger protein 213 p.R4810K variant, clinical features and long-term outcomes in patients with moyamoya disease (MMD) after encephaloduroarteriosynangiosis treatment.A total of 2,545 patients with MMD in China were included in this study (median of follow-up duration: 32.00 months). Multiple Cox regression models were used to assess the associations between p.R4810K variant, clinical features and long-term outcomes.For all patients, in multivariate Cox analysis, no association was observed between p.R4810K and long-term outcomes. Pediatric onset (HR, 0.38; 95%CI, 0.25-0.59) and headache (HR, 0.26; 95%CI, 0.08-0.83) were inversely and hypertension (HR, 1.43 95%CI, 1.06-1.94), diabetes (HR, 1.55; 95%CI, 1.00-2.40), bilateral lesions (HR, 2.73; 95%CI, 1.12-6.65) and posterior cerebral artery involvement (HR, 1.44; 95%CI, 1.08-1.90) were positively associated with follow-up stroke (all P < 0.05). Pediatric onset (HR, 0.46; 95%CI, 0.26-0.82) was inversely and hyperlipidemia (HR, 1.83; 95%CI, 1.23-2.73), smoking (HR, 1.86; 95%CI, 1.13-3.07), high Suzuki angiographic stage (HR, 1.71, 95%CI, 1.09-2.70), poor admission neurologic status (HR, 8.93; 95%CI, 6.49-12.29) and follow-up stroke (HR, 8.31; 95%CI, 6.01-11.49) were positively associated with poor neurologic outcome at the last follow-up visit (all P < 0.05). The factors were not consistent in the different groups of age at onset.In our study, p.R4810K may play no role in long-term outcomes in Chinese MMD. Clinical features including age at onset, initial symptoms, risk factors of stroke, imaging, poor admission neurologic status were associated with poor outcomes in MMD after EDAS.